MitoAction Expert Series Meeting August 5 2022 Amy Goldstein MD Jamie Peterson MS LCGC What is mitochondrial disease Mitochondrial are our bodies batteries Primary mitochondrial disease is an energy deficiency due to a mutations in the DNA that affect the mitochondria ID: 1045228
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1. The ins and outs of CHOP Mito ClinicMitoAction Expert Series MeetingAugust 5, 2022Amy Goldstein, MD Jamie Peterson, MS, LCGC
2. What is mitochondrial disease?Mitochondrial are our bodies’ “batteries”Primary mitochondrial disease is an “energy deficiency” due to a mutation(s) in the DNA that affect the mitochondria
3. What does mitochondrial disease look like?Mitochondrial Disease can cause a wide variety of symptoms in “high energy organs”Generally, 3 or more organ systems involvedOnset of symptoms can range from infancy to adulthood
4. How to be referred for evaluationDiscuss your symptoms with your PCP or one of your other doctorsAsk if a referral for a mitochondrial disease work-up is appropriateHave your doctor send a referral to our team Referrals may be sent to:MMFP@chop.eduFax 215-590-0582Please use subject header: “New patient referral”
5. Referral reviewAll referrals are reviewed to see if the patient is an appropriate fit for a mitochondrial disease work-upComplete records are crucial for an expedient reviewIncomplete records take more time to reviewRecords checklist (not comprehensive)Referral from your provider stating why you were referredAll genetic testing records, if performedRecords from specialists for your corresponding symptomsLaboratory studiesBrain MRI images, if performedPrevious muscle or skin biopsies records, if performed
6. Referral ReviewPlease feel free to check in on the status of your referral!The best way to contact our clinic as a new patient is by emailMMFP@chop.eduFor current patients, the MyCHOP messaging system is the preferred methodPhone: 267-426-4961
7. 7MMFP: Global patient distributionMMFP-TableauIbrahim George-Sankoh
8. Difficulty getting to CHOP?
9. What does CHOP Mito Team Provide?Care coordination for patients with primary mitochondrial diseaseGenetic testing is needed to confirm the diagnosisDiagnostic Testing for undiagnosed patients with a clinical suspicion for mitochondrial diseaseClinical trial site for patients with a confirmed primary mitochondrial diseaseResearch studies aimed at improving the diagnosis rate of mitochondrial disease and exploring potential future therapeutic options for mitochondrial disease
10. More information about CHOP Mitohttps://www.chop.edu/centers-programs/mitochondrial-disease-clinical-centerhttps://www.facebook.com/Mitocenter/https://www.facebook.com/chopmitochondrialmedicinecenter
11. MMFP Clinician Teamhttps://www.chop.edu/centers-programs/mitochondrial-disease-clinical-center/our-team MMFP Clinical Fellows & Observers MMFP Primary Mitochondrial CliniciansSonal Sharma, MD2020-2021Ibrahim (Ibby) Elsharkawi, MD2021-2022Isabella Peixoto de Barcelos, MDNAMDC Fellow 2018-2019Yi Guo, MD, PhDObserver from China 2018-2019Edward C. Shadiack III, DO2019-2020Cassandra Pantano, CRNP Joined Faculty August 2021Matthew Demczko, MD
12. MMFP Clinical Staffmmfp@chop.edu267-426-4961New Team Members!Practice Manager- Aja WashingtonSocial Worker – Addie Fishstein